UniProt Protein Function: | nectin 1: Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4. Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI); also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDMI is an autosomal recessive syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7). Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two- third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. Belongs to the nectin family. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Cell adhesion Chromosomal Location of Human Ortholog: 11q23.3 Cellular Component: presynaptic membrane; cell-cell adherens junction; adherens junction; intracellular membrane-bound organelle; membrane; axon; extracellular region; plasma membrane; integral to membrane; catenin complex Molecular Function:viral receptor activity; protein binding; protein homodimerization activity; protein heterodimerization activity; virion binding; coreceptor activity; cell adhesion molecule binding; carbohydrate binding Biological Process: intercellular junction assembly and maintenance; axon guidance; entry of virus into host cell; signal transduction; iron ion transport; heterophilic cell adhesion; cell-cell adhesion; regulation of synaptogenesis; retina development in camera-type eye; immune response; lens morphogenesis in camera-type eye; homophilic cell adhesion; cell adhesion Disease: Cleft Lip/palate-ectodermal Dysplasia Syndrome |
NCBI Summary: | This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009] |
UniProt Code: | Q15223 |
NCBI GenInfo Identifier: | 18202503 |
NCBI Gene ID: | 5818 |
NCBI Accession: | Q15223.3 |
UniProt Secondary Accession: | Q15223,O75465, Q2M3D3, Q9HBE6, Q9HBW2, |
UniProt Related Accession: | Q15223 |
Molecular Weight: | 517 |
NCBI Full Name: | Nectin-1 |
NCBI Synonym Full Names: | poliovirus receptor-related 1 (herpesvirus entry mediator C) |
NCBI Official Symbol: | PVRL1 |
NCBI Official Synonym Symbols: | ED4; PRR; HIgR; HV1S; HVEC; OFC7; PRR1; PVRR; CD111; PVRR1; SK-12; CLPED1; nectin-1 |
NCBI Protein Information: | nectin-1; nectin 1; poliovirus receptor-like 1; herpesvirus Ig-like receptor; herpes virus entry mediator C; poliovirus receptor-related protein 1; herpes simplex virus type 1 sensitivity; ectodermal dysplasia 4 (Margarita Island type) |
UniProt Protein Name: | Nectin-1 |
UniProt Synonym Protein Names: | Herpes virus entry mediator C; Herpesvirus entry mediator C; HveC; Herpesvirus Ig-like receptor; HIgR; Poliovirus receptor-related protein 1; CD_antigen: CD111 |
UniProt Gene Name: | PVRL1 |
UniProt Entry Name: | PVRL1_HUMAN |